Canonical Allele Identifier: CA430242418

Linked Data

MyVariant Identifiers: chr2:g.179411424T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.178546697T>G , CM000664.2:g.178546697T>G GRCh38
NC_000002.11:g.179411424T>G , CM000664.1:g.179411424T>G GRCh37
NC_000002.10:g.179119670T>G NCBI36
NG_011618.3:g.289106A>C , LRG_391:g.289106A>C
NG_051363.1:g.28871T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000342992.11:c.87027A>C (TTN) ENSP00000343764.6:p.Gly29009=
ENST00000342175.11:c.68112A>C (TTN) ENSP00000340554.6:p.Gly22704=
ENST00000359218.10:c.67911A>C (TTN) ENSP00000352154.5:p.Gly22637=
ENST00000342175.10:c.68112A>C (TTN) ENSP00000340554.6:p.Gly22704=
ENST00000342992.10:c.87027A>C (TTN) ENSP00000343764.6:p.Gly29009=
ENST00000359218.9:c.67911A>C (TTN) ENSP00000352154.5:p.Gly22637=
ENST00000460472.6:c.67536A>C (TTN) ENSP00000434586.1:p.Gly22512=
ENST00000589042.5:c.94731A>C (TTN) MANE Select ENSP00000467141.1:p.Gly31577=
ENST00000591111.5:c.89808A>C (TTN) ENSP00000465570.1:p.Gly29936=
ENST00000615779.4:c.89808A>C (TTN) ENSP00000483597.1:p.Gly29936=
NM_001256850.1:c.89808A>C (TTN) NP_001243779.1:p.Gly29936=
NM_001267550.2:c.94731A>C (TTN) MANE Select NP_001254479.2:p.Gly31577=
NM_003319.4:c.67536A>C (TTN) NP_003310.4:p.Gly22512=
NM_133378.4:c.87027A>C (TTN) NP_596869.4:p.Gly29009=
NM_133432.3:c.67911A>C (TTN) NP_597676.3:p.Gly22637=
NM_133437.4:c.68112A>C (TTN) NP_597681.4:p.Gly22704=
NR_038271.1:n.446+23061T>G (TTN-AS1)
NR_038272.1:n.2043+4336T>G (TTN-AS1)
XM_011511729.1:c.93828A>C (TTN) XP_011510031.1:p.Gly31276=
XM_011511730.1:c.67722A>C (TTN) XP_011510032.1:p.Gly22574=
XM_011511731.1:c.67581A>C (TTN) XP_011510033.1:p.Gly22527=
XM_017004819.1:c.93624A>C (TTN) XP_016860308.1:p.Gly31208=
XM_017004820.1:c.89022A>C (TTN) XP_016860309.1:p.Gly29674=
XM_017004821.1:c.89019A>C (TTN) XP_016860310.1:p.Gly29673=
XM_017004822.1:c.86061A>C (TTN) XP_016860311.1:p.Gly28687=
XM_017004823.1:c.67677A>C (TTN) XP_016860312.1:p.Gly22559=
XM_024453094.1:c.89172A>C (TTN) XP_024308862.1:p.Gly29724=
XM_024453095.1:c.89169A>C (TTN) XP_024308863.1:p.Gly29723=
XM_024453096.1:c.88602A>C (TTN) XP_024308864.1:p.Gly29534=
XM_024453097.1:c.85944A>C (TTN) XP_024308865.1:p.Gly28648=
XM_024453098.1:c.85863A>C (TTN) XP_024308866.1:p.Gly28621=
XM_024453099.1:c.67626A>C (TTN) XP_024308867.1:p.Gly22542=
XM_024453100.1:c.57480A>C (TTN) XP_024308868.1:p.Gly19160=